K23E (p.Lys23Glu) variant of CD3D (P04234)
K23E (p.Lys23Glu) in CD3D (P04234) is a missense change. Clinical records from EBI and UniProt describe it as uncertain significance. The available variant effect predictions contribute to a CATVariant prioritization score of 0.06 / 1. The record also includes population frequency data and structural context.
K23E (p.Lys23Glu) variant details
- p.Lys23Glu
- ExAC rs199969175
- TOPMed rs199969175
- gnomAD rs199969175
- Uncertain significance
- Missense
- Variant Prioritization Score for Impact Estimate 0.0635
- REVEL 0.07
- CADD 0.10
- PolyPhen-2 0.00
- SIFT 0.22
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the Non-Finnish European population (allele frequency 2.9e-05)
- Structural context available